TY - JOUR AU - Gojo, Johannes AU - Kjaersgaard, Mimi AU - Zezschwitz, Barbara V AU - Capper, David AU - Tietze, Anna AU - Kool, Marcel AU - Haberler, Christine AU - Pizer, Barry AU - Hoff, Katja V TI - Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions JF - EUROPEAN JOURNAL OF MEDICAL GENETICS J2 - EUR J MED GENET VL - 66 PY - 2023 IS - 1 SN - 1769-7212 DO - 10.1016/j.ejmg.2022.104660 UR - https://m2.mtmt.hu/api/publication/33611122 ID - 33611122 N1 - Összes idézések száma a WoS-ban: 0 LA - English DB - MTMT ER - TY - JOUR AU - Kumar, N. AU - Madan, R. AU - Gupta, K. AU - Chatterjee, D. AU - Uppal, D. K. AU - Goyal, S. AU - Ballari, N. AU - Khosla, D. AU - Sahoo, S. K. AU - Ahuja, C. K. TI - Embryonal tumors with multilayered rosettes: A tertiary care centre experience JF - CLINICAL NEUROLOGY AND NEUROSURGERY J2 - CLIN NEUROL NEUROSUR VL - 202 PY - 2021 PG - 6 SN - 0303-8467 DO - 10.1016/j.clineuro.2021.106508 UR - https://m2.mtmt.hu/api/publication/32010637 ID - 32010637 N1 - Department of Radiotherapy and Oncology, Postgraduate Institute of Medical Education and Research, Chandigarh, India Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India Export Date: 12 May 2021 CODEN: CNNSB Correspondence Address: Madan, R.; Department of Radiotherapy and Oncology, India; email: renumadan10@yahoo.com AB - Background: Embryonal tumors with multilayered rosettes (ETMR) is an extremely rare and highly aggressive tumor. It includes three distinct entities i.e, embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL). Here, we present our institutional experience of seven ETMR cases treated over a period of five years. Materials and methods: Patients & rsquo; records from 2015 to 2019 were reviewed manually and electronically to retrieve the data. Clinicopathological and outcome details of ETMR cases were entered in a predesigned proforma. Results: A total of seven cases of ETMR were registered from 2015 to 2019 with a median age at presentation of four years (range 3 & ndash;7 years). All patients underwent surgery. However, only three patients completed the planned adjuvant treatment, comprising of focal radiotherapy (RT) alone, craniospinal irradiation (CSI) alone and CSI followed by six cycles of chemotherapy in one patient each respectively. Two patients commenced CSI but deteriorated during RT and thereafter needed best supportive care. Two patients could not be started on any adjuvant treatment. Unfortunately, six patients succumbed to their disease within one year of their diagnosis. Only one patient who received both CSI and adjuvant chemotherapy is alive at 15 months of diagnosis. Conclusion: ETMR is a rare and aggressive entity. Majority of the patients die within one year of the diagnosis despite multimodality treatment. LA - English DB - MTMT ER - TY - JOUR AU - von Hoff, Katja AU - Haberler, Christine AU - Schmitt-Hoffner, Felix AU - Schepke, Elizabeth AU - de Rojas, Teresa AU - Jacobs, Sandra AU - Zapotocky, Michal AU - Sumerauer, David AU - Perek-Polnik, Marta AU - Dufour, Christelle AU - van Vuurden, Dannis AU - Slavc, Irene AU - Gojo, Johannes AU - Pickles, Jessica C. AU - Gerber, Nicolas U. AU - Massimino, Maura AU - Gil-da-Costa, Maria Joao AU - Garami, Miklós AU - Kumirova, Ella AU - Sehested, Astrid AU - Scheie, David AU - Cruz, Ofelia AU - Moreno, Lucas AU - Cho, Jaeho AU - Zeller, Bernward AU - Bovenschen, Niels AU - Grotzer, Michael AU - Alderete, Daniel AU - Snuderl, Matija AU - Zheludkova, Olga AU - Golanov, Andrey AU - Okonechnikov, Konstantin AU - Mynarek, Martin AU - Juhnke, Bjoern Ole AU - Rutkowski, Stefan AU - Schuller, Ulrich AU - Pizer, Barry AU - von Zezschwitz, Barbara AU - Kwiecien, Robert AU - Wechsung, Maximilian AU - Konietschke, Frank AU - Hwang, Eugene I AU - Sturm, Dominik AU - Pfister, Stefan M. AU - von Deimling, Andreas AU - Rushing, Elisabeth J. AU - Ryzhova, Marina AU - Hauser, Péter AU - Lastowska, Maria AU - Wesseling, Pieter AU - Giangaspero, Felice AU - Hawkins, Cynthia AU - Figarella-Branger, Dominique AU - Eberhart, Charles AU - Burger, Peter AU - Gessi, Marco AU - Korshunov, Andrey AU - Jacques, Tom S. AU - Capper, David AU - Pietsch, Torsten AU - Kool, Marcel TI - Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study JF - NEURO-ONCOLOGY J2 - NEURO-ONCOLOGY VL - 23 PY - 2021 IS - 9 SP - 1597 EP - 1611 PG - 15 SN - 1522-8517 DO - 10.1093/neuonc/noab136 UR - https://m2.mtmt.hu/api/publication/32327650 ID - 32327650 N1 - Összes idézések száma a WoS-ban: 0 AB - Background. Only few data are available on treatment-associated behavior of distinct rare CNS embryonal tumor entities previously treated as "CNS-primitive neuroectodermal tumors" (CNS-PNET). Respective data on specific entities, including CNS neuroblastoma, FOXR2 activated (CNS NB-FOXR2), and embryonal tumors with multilayered rosettes (ETMR) are needed for development of differentiated treatment strategies.Methods. Within this retrospective, international study, tumor samples of clinically well-annotated patients with the original diagnosis of CNS-PNET were analyzed using DNA methylation arrays (n = 307). Additional cases (n = 66) with DNA methylation pattern of CNS NB-FOXR2 were included irrespective of initial histological diagnosis. Pooled clinical data (n = 292) were descriptively analyzed.Results. DNA methylation profiling of "CNS-PNET" classified 58 (19%) cases as ETMR, 57 (19%) as high-grade glioma (HGG), 36 (12%) as CNS NB-FOXR2, and 89(29%) cases were classified into 18 other entities. Sixty-seven (22%) cases did not show DNA methylation patterns similar to established CNS tumor reference classes. Best treatment results were achieved for CNS NB-FOXR2 patients (5-year PFS: 63% 7%, OS: 85% +/- 5%, n = 63), with 35/42 progression-free survivors after upfront craniospinal irradiation (CSI) and chemotherapy. The worst outcome was seen for ETMR and HGG patients with 5-year PFS of 18% +/- 6% and 22% +/- 7%, and 5-year OS of 24% +/- 6% and 25% +/- 7%, respectively.Conclusion. The historically reported poor outcome of CNS-PNET patients becomes highly variable when tumors are molecularly classified based on DNA methylation profiling. Patients with CNS NB-FOXR2 responded well to current treatments and a standard-risk CSI-based regimen may be prospectively evaluated. The poor outcome of ETMR across applied treatment strategies substantiates the necessity for evaluation of novel treatments. LA - English DB - MTMT ER - TY - JOUR AU - Mayr, Lisa AU - Gojo, Johannes AU - Peyrl, Andreas AU - Azizi, Amedeo A. AU - Stepien, Natalia M. AU - Pletschko, Thomas AU - Czech, Thomas AU - Dorfer, Christian AU - Lambo, Sander AU - Dieckmann, Karin AU - Haberler, Christine AU - Kool, Marcel AU - Slavc, Irene TI - Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes JF - FRONTIERS IN ONCOLOGY J2 - FRONT ONCOL VL - 10 PY - 2020 PG - 10 SN - 2234-943X DO - 10.3389/fonc.2020.584681 UR - https://m2.mtmt.hu/api/publication/32010638 ID - 32010638 N1 - Funding Agency and Grant Number: Austrian Science Fund within the TRANSCAN-2 project "BRCAddict" [I 4164]; Solving Kid's Cancer foundation; Bibi Fund for Childhood Cancer Research Funding text: This study was supported by the Austrian Science Fund (I 4164 to J.G.) within the TRANSCAN-2 project "BRCAddict". SL and MK are supported by the Solving Kid's Cancer foundation and the Bibi Fund for Childhood Cancer Research. Department of Pediatrics and Adolescent Medicine and Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria Department of Neurosurgery, Medical University of Vienna, Vienna, Austria Division of Pediatric Neurooncology, Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg, Germany Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany Department of Radiotherapy, Medical University of Vienna, Vienna, Austria Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria Research Department, Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands Export Date: 12 May 2021 Correspondence Address: Slavc, I.; Department of Pediatrics and Adolescent Medicine and Comprehensive Center for Pediatrics, Austria; email: irene.slavc@meduniwien.ac.at AB - Embryonal tumor with multilayered rosettes (ETMR) is a rare, aggressive embryonal central nervous system tumor characterized by LIN28A expression and alterations in the C19MC locus. ETMRs predominantly occur in young children, have a dismal prognosis, and no definitive treatment guidelines have been established. We report on nine consecutive patients and review the role of initiation/timing of radiotherapy on survival. Between 2006 and 2018, nine patients were diagnosed with ETMR. Diagnosis was confirmed histopathologically, immunohistochemically and molecularly. Median age was 25 months (5-38). Location was supratentorial in five, pineal in three, and brainstem in one. Seven patients had a gross total resection, one a partial resection and one a biopsy at initial diagnosis. Chemotherapy augmented with intrathecal therapy started a median of 10 days (7-20) after surgery. Only two patients who after gross total resection received radiotherapy very early on (six weeks after diagnosis) are alive and in complete remission 56 and 50 months after diagnosis. All remaining patients for whom radiotherapy was deferred until the end of chemotherapy recurred, albeit none with leptomeningeal disease. A literature research identified 228 patients with ETMR. Including our patients only 26 (11%) of 237 patients survived >36 months with no evidence of disease at last follow-up. All but two long-term (>36 months) survivors received radiotherapy, ten of whom early on following gross total resection (GTR). GTR followed by early focal radiotherapy and intrathecal therapy to prevent leptomeningeal disease are potentially important to improve survival of ETMR in the absence of effective targeted therapies. LA - English DB - MTMT ER - TY - JOUR AU - Bailey, Kayleen AU - Pandit-Taskar, Neeta AU - Humm, John L. AU - Zanzonico, Pat AU - Gilheeney, Stephen AU - Cheung, Nai-Kong V. AU - Kramer, Kim TI - Targeted radioimmunotherapy for embryonal tumor with multilayered rosettes JF - JOURNAL OF NEURO-ONCOLOGY J2 - J NEURO-ONCOL VL - 143 PY - 2019 IS - 1 SP - 101 EP - 106 PG - 6 SN - 0167-594X DO - 10.1007/s11060-019-03139-6 UR - https://m2.mtmt.hu/api/publication/30734394 ID - 30734394 N1 - Funding Agency and Grant Number: NIH Cancer CenterUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [P30 CA008748]; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [P30CA008748] Funding Source: NIH RePORTER Funding text: We thank Mr. Joseph Olechnowicz for editorial assistance, Dr Serge Lyashchenko, HiJin Park, Jiong Wu for radiochemistry assistance. We are grateful to our patients and families for allowing us to participate in their clinical care. The authors acknowledge support from the NIH Cancer Center Support Grant P30 CA008748. Department of Pediatrics, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY 10065, United States Department of Radiology (Molecular Imaging and Therapy Service), Memorial Sloan Kettering Cancer Center, New York, NY, United States Department of Medical Physics, Memorial Sloan Kettering Cancer Center, New York, NY, United States Cited By :7 Export Date: 12 May 2021 CODEN: JNODD Correspondence Address: Kramer, K.; Department of Pediatrics, 1275 York Ave, United States; email: kramerk@mskcc.org AB - PurposeWe explored the use of intraventricular I-131-Omburtamab targeting B7-H3 in patients with ETMR.MethodsPatients were enrolled in an IRB approved, phase 1, 3+3 dose escalation trial. Patients with CNS disease expressing the antibody target antigen B7-H3 were eligible. We report on a cohort of three patients with ETMR who were enrolled on the study. Three symptomatic children (ages 14 months, 3 and 3.5years) had large parietal masses confirmed to be B7-H3-reactive ETMR. Patients received 2mCi I-131-Omburtamab as a tracer followed by one or two therapeutic I-131-Omburtamab injections. Dosimetry was based on serial CSF, blood samplings and region of interest (ROI) on nuclear scans. Brain and spine MRIs and CSF cytology were done at baseline, 5 weeks after I-131-Omburtamab, and approximately every 3months thereafter. Acute toxicities and survival were noted.ResultsPatients received surgery, focal radiation, and high dose chemotherapy. Patients 1 and 2 received I-131-Omburtamab (80 and 53mCi, respectively). Patient 3 had a local recurrence prior to I-131-Omburtamab treated with surgery, external beam radiation, chemotherapy, then I-131-Omburtamab (36mCi). I-131-Omburtamab was well-tolerated. Mean dose delivered by I-131-Omburtamab was 68.4cGy/mCi to CSF and 1.95cGy/mCi to blood. Mean ROI doses were 230.4 (ventricular) and 58.2 (spinal) cGy/mCi. Patients 1 and 2 remain in remission 6.8years and 2.3years after diagnosis, respectively; patient 3 died of progressive disease 7months after therapy (2years after diagnosis).Conclusions(131)I-Omburtamab appears safe with favorable dosimetry therapeutic index. When used as consolidation following surgery and chemoradiation therapy, I-131-Omburtamab may have therapeutic benefit for patients with ETMR. LA - English DB - MTMT ER - TY - JOUR AU - Nandakumar, G. AU - Francis, Nisha AU - Nair, Krishna Govindan Balachandran TI - EMBRYONAL TUMOUR WITH MULTI-LAYERED ROSETTE- A RARE CASE REPORT JF - JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS J2 - J EVOL MED DENT SCI- VL - 8 PY - 2019 IS - 14 SP - 1199 EP - 1201 PG - 3 SN - 2278-4748 DO - 10.14260/jemds/2019/264 UR - https://m2.mtmt.hu/api/publication/30734393 ID - 30734393 LA - English DB - MTMT ER - TY - JOUR AU - Bouali, Sofiene AU - Zehani, Alia AU - Mahmoud, Maha AU - Said, Imed Ben AU - Kallel, Jalel AU - Jemel, Hafedh TI - Embryonal tumor with multilayered rosettes: illustrative case and review of the literature JF - CHILDS NERVOUS SYSTEM J2 - CHILD NERV SYST VL - 34 PY - 2018 IS - 12 SP - 2361 EP - 2369 PG - 9 SN - 0256-7040 DO - 10.1007/s00381-018-3972-x UR - https://m2.mtmt.hu/api/publication/30480123 ID - 30480123 N1 - Department of Neurosurgery, National Institute of Neurology ”Mongi Ben Hmida”, Tunis, Faculty of Medicine, University of Tunis el MANAR, Tunis, Tunisia Department of Histopathology la Rabta, Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia Department of Neuroradiology, National Institute of Neurology Tunis, Tunisia Faculty of Medicine, University of Tunis el MANAR, Tunis, Tunisia Export Date: 12 May 2021 CODEN: CNSYE Correspondence Address: Bouali, S.; Department of Neurosurgery, Tunisia; email: sofienebouali@hotmail.fr AB - BackgroundEmbryonal tumor with multilayered rosettes (ETMR) is a very rare entity and has seldom been reported. It has been newly defined tumor entity included in the latest update (revised fourth edition) of WHO 2016 Classification of Tumors of the Central Nervous System which portends a uniform dismal prognosis and survival even with the best of multimodality approaches.Illustrative caseThis report documents the presentation of a 2-year-old girl with voluminous intracranial ETMR in the right parieto-occipital region. We describe clinical diagnosis, histological aspects, radiological features, and current management of this very aggressive tumor.ConclusionPediatric intracranial ETMR is a highly aggressive neoplasm, and it should be considered in the differential diagnosis of pediatric brain tumors. LA - English DB - MTMT ER - TY - JOUR AU - Shah, AH AU - Khatib, Z AU - Niazi, T TI - Extracranial extra-CNS spread of embryonal tumor with multilayered rosettes (ETMR): case series and systematic review JF - CHILDS NERVOUS SYSTEM J2 - CHILD NERV SYST VL - 34 PY - 2018 IS - 4 SP - 649 EP - 654 PG - 6 SN - 0256-7040 DO - 10.1007/s00381-017-3657-x UR - https://m2.mtmt.hu/api/publication/27239765 ID - 27239765 N1 - Division of Pediatric Neurological Surgery, Miami Children’s Hospital and University of Miami Miller School of Medicine, 3215 SW 62nd Avenue, Ambulatory Care Building, Suite 3109, Miami, FL 33155, United States Division of Hematology/Oncology, Department of Pediatrics, Miami Children’s Hospital and Florida International University, Herbert Wertheim College of Medicine, Miami, FL 33155, United States Cited By :4 Export Date: 12 May 2021 CODEN: CNSYE Correspondence Address: Shah, A.H.; Division of Pediatric Neurological Surgery, 3215 SW 62nd Avenue, Ambulatory Care Building, Suite 3109, United States; email: ashah@med.miami.edu LA - English DB - MTMT ER - TY - CHAP AU - McGovern, SL TI - Atypical teratoid rhabdoid tumors (AT/RT) and ETMR T2 - Radiation Oncology for Pediatric CNS Tumors PB - Springer Netherlands SN - 9783319554303 PB - Springer Netherlands PY - 2017 SP - 147 EP - 162 PG - 16 DO - 10.1007/978-3-319-55430-3_8 UR - https://m2.mtmt.hu/api/publication/27239766 ID - 27239766 N1 - Export Date: 11 July 2019 Correspondence Address: McGovern, S.L.; Department of Radiation Oncology, The University of Texas MD Anderson Cancer, 1515 Holcombe Blvd., Box 97, United States; email: slmcgove@mdanderson.edu Export Date: 12 May 2021 Correspondence Address: McGovern, S.L.; Department of Radiation Oncology, 1515 Holcombe Blvd., Box 97, United States; email: slmcgove@mdanderson.edu LA - English DB - MTMT ER - TY - JOUR AU - Schmidt, Christin AU - Schubert, Nil A AU - Brabetz, Sebastian AU - Mack, Norman AU - Schwalm, Benjamin AU - Chan, Jennifer A AU - Selt, Florian AU - Herold-Mende, Christel AU - Witt, Olaf AU - Milde, Till AU - Pfister, Stefan M AU - Korshunov, Andrey AU - Kool, Marcel TI - Preclinical drug screen reveals topotecan, actinomycin D, and volasertib as potential new therapeutic candidates for ETMR brain tumor patients JF - NEURO-ONCOLOGY J2 - NEURO-ONCOLOGY VL - 19 PY - 2017 IS - 12 SP - 1607 EP - 1617 PG - 11 SN - 1522-8517 DO - 10.1093/neuonc/nox093 UR - https://m2.mtmt.hu/api/publication/27053772 ID - 27053772 N1 - Division of Pediatric Neurooncology, German Cancer Research Center, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany Cancer Consortium, Core Center Heidelberg, Heidelberg, Germany Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada Alberta Children's Hospital Research Institute, Charbonneau Cancer Institute, University of Calgary, Calgary, AB, Canada Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center, Heidelberg, Germany Department of Pediatric Oncology, Hematology and Immunology, Section of Pediatric Brain Tumors, University Hospital Heidelberg, Heidelberg, Germany National Center for Tumor Diseases, Clinical Trial Center, Heidelberg, Germany Division of Neurosurgical Research, Department of Neurosurgery, University Hospital Heidelberg, Heidelberg, Germany Clinical Cooperation Unit Neuropathology, German Cancer Research Center, Heidelberg, Germany Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany Cited By :5 Export Date: 10 July 2019 CODEN: NEURJ Correspondence Address: Kool, M.; Division of Pediatric Neurooncology, German Cancer Research Center, Im Neuenheimer Feld 280, Germany; email: m.kool@dkfz.de Funding Agency and Grant Number: Targeting of Resistance in PEDiatric Oncology (TORPEDO) TRANSCAN project (BMBF) [01KT1605] Funding text: This work was partially supported by Targeting of Resistance in PEDiatric Oncology (TORPEDO) TRANSCAN project (BMBF funded), project number 01KT1605. Division of Pediatric Neurooncology, German Cancer Research Center, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany Cancer Consortium, Core Center Heidelberg, Heidelberg, Germany Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada Alberta Children's Hospital Research Institute, Charbonneau Cancer Institute, University of Calgary, Calgary, AB, Canada Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center, Heidelberg, Germany Department of Pediatric Oncology, Hematology and Immunology, Section of Pediatric Brain Tumors, University Hospital Heidelberg, Heidelberg, Germany National Center for Tumor Diseases, Clinical Trial Center, Heidelberg, Germany Division of Neurosurgical Research, Department of Neurosurgery, University Hospital Heidelberg, Heidelberg, Germany Clinical Cooperation Unit Neuropathology, German Cancer Research Center, Heidelberg, Germany Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany Cited By :17 Export Date: 12 May 2021 CODEN: NEURJ Correspondence Address: Kool, M.; Division of Pediatric Neurooncology, Im Neuenheimer Feld 280, Germany; email: m.kool@dkfz.de LA - English DB - MTMT ER - TY - JOUR AU - Slavc, I AU - Peyrl, A AU - Azizi, AA AU - Gojo, J AU - Reisinger, D AU - Mayr, L AU - Czech, T AU - Dieckmann, K AU - Haberler, C TI - Focal Radiotherapy and Temozolomide Following Complete Resection are Superior to Intensive Chemotherapy in Children with Embryonal Tumors with Multilayered Rosettes (ETMR) JF - PEDIATRIC BLOOD & CANCER J2 - PEDIATR BLOOD CANCER VL - 64 PY - 2017 SP - S313 EP - S313 SN - 1545-5009 UR - https://m2.mtmt.hu/api/publication/26979820 ID - 26979820 N1 - SU 3 Supplement: 3 LA - English DB - MTMT ER -